CPZ

carboxypeptidase Z, the group of M14 carboxypeptidases

Basic information

Region (hg38): 4:8592660-8619759

Links

ENSG00000109625 ∙ NCBI:8532 ∙ OMIM:603105 ∙ HGNC:2333 ∙ Uniprot:Q66K79 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CPZ gene.

• not_specified (210 variants)
• CPZ-related_disorder (35 variants)
• not_provided (17 variants)
• Short_stature (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPZ gene is commonly pathogenic or not. These statistics are base on transcript: NM_001014447.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				9	12	21
missense		1	204	10	8	223
nonsense			2	1		3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	1	207	20	20

Highest pathogenic variant AF is 0.000020359632

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CPZ	protein_coding	protein_coding	ENST00000360986	11	27102

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.81e-36	7.61e-9	125030	0	717	125747	0.00285

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.43	675	420	1.61	0.0000282	4151
Missense in Polyphen		283	176.33	1.6049		1740
Synonymous	-6.68	293	179	1.64	0.0000128	1292
Loss of Function	-3.26	43	25.3	1.70	0.00000117	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00473	0.00472
Ashkenazi Jewish	0.00562	0.00557
East Asian	0.00595	0.00572
Finnish	0.00347	0.00347
European (Non-Finnish)	0.00217	0.00216
Middle Eastern	0.00595	0.00572
South Asian	0.00259	0.00252
Other	0.00362	0.00359

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing. {ECO:0000269|PubMed:11766880, ECO:0000269|PubMed:12417617, ECO:0000269|PubMed:9099699}.

Recessive Scores

• pRec: 0.122

Intolerance Scores

• rvis_EVS: -1.49
• rvis_percentile_EVS: 3.62

Haploinsufficiency Scores

• pHI: 0.246
• hipred: N
• hipred_score: 0.197
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.299

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cpz

Gene ontology

• Biological process: proteolysis;peptide metabolic process;Wnt signaling pathway;protein processing
• Cellular component: extracellular space
• Molecular function: metallocarboxypeptidase activity;zinc ion binding